Ngā irakētanga pūira: te whakamārama poto, me te whakarōpū

Tino maha kitea i roto i te āhua tītohunga huaina irakētanga pūira. Kei te whai pānga te reira ki te huringa i roto i te hanganga ranei te maha o ngā pūira me te mata ki te whanaketanga atu o te momo o hē i roto i te tinana. E wehewehea irakētanga o pūira ki hanganga (reira ko te tauiraa i roto i to ratou hanganga) me tau (āhuatanga e te huringa i roto i te maha o ngā pūira i roto i te genome o te rua).

irakētanga pūira hanganga. Tenei mate, e pā nei te ki whaturama me muri wahi here o pūira, hua i roto i te huri i te tīmata rauemi ira. Ka taea e ratou kia:

- whärite - i roto i tenei take i reira ko te kaimahi i te taikaha o te rauemi ira ranei, na i roto i nuinga o te wā e kore ratou e puta. Ko reira te mea he mōrearea nui o te tuku o te huinga ta'emafamafatatau o rauemi ira i roto i te tupuranga.

- ta'emafamafatatau - i roto i tenei take, i te tamaiti e parauhia e te maha o pathologies nui.

E nga ara e whai ake nei ki ngā huringa i roto i te hanganga pūira:

• Mukunga - ngā irakētanga pūira e kua pā ana ki miro break pūira me te mate o tona wahi nui. Peheé huringa arahi ki nunu'a mamafa, a i roto i ētahi wā mate.
• Duplications - irakētanga e kua e pā ana ki te tuaruatia ai o te rohe motuhake o DNA, ki kore māuiuitanga nui.
• kawea i roto i te whati rua pūira pātata - Translocation. Ka rite ki te hua, taui te pūira e rua ratou wae, hanga he huinga hou o te rauemi ira.
• Insetsii - āhuatanga e te wāhanga whakawhiti o tetahi pūira ki tetahi.
• Koaro - ka hanga i te irakētanga pūira puta he āputa i roto i nga wahi e rua i te wā kotahi. I muri iho, te wahi kei e te i waenganui i nga discontinuities, kua koané e pā ana ki te tuaka, te huri i te raupapa ira.

ngā irakētanga pūira tau. Ka rite ki kua whakahuatia, kua whai pānga ana tenei momo o irakētanga ki te huringa i roto i te maha o ngā pūira. Ko nga momo e whai ake nei:

• Tātoru - irakētanga pūira, haere tahi nei i te ahua i roto i te poka wai ira o te pūira anō. Tenei puta ki te, i roto i te wehenga pūtau, e kore e pūira tamahine i te aroaro. meinga taua huringa me abnormalities tohuāhua. hua ētahi trisomies i roto i te mate fetal i roto i te tīmatanga o tona whanaketanga. Ko te take o irakētanga tonu e kore e tino elucidated.
• Monosomy - irakētanga pūira āhuatanga nei i te te ngaro o tetahi pūira. I roto i te nuinga o te wā, e kore te mea taea te kaiao taua, na mate i roto i te tīmatanga o te whanaketanga embryonic.
• Poliplodiya - he āhuatanga tino onge, āhuatanga nei i te te aroaro i roto i te pūtau tata'i toru, me huinga ētahi wā noa whā o pūira. He rauropi ki taua hauātanga kore e taea e ki te ora - ranei mate ia i mua i whanau ranei i muri tonu ia ratou.
• huringa tau i roto i te pūira takoto - he āhuatanga tika noa, haere tahi nei i te hua i roto i te maha o ngā pūira i roto i te whakamutunga, e rua 23.

ngā irakētanga pūira: tauira

rongoā Modern mohio maha take o ngā tamariki whanau ki hē pūira. Ka rite ki whakahuatia mua, meinga etahi ngā irakētanga pūira kahore tauhohenga kitea i runga i te wahi o te tinana, a he tika etahi e kore e hototahi ki ora. Ko reira te mea he tika te pai-mohiotia mate, iranga e whakatika ïa rite ki te hua o ngā rerekētanga i roto i te rauemi ira.

Hei tauira, Down syndrome - tātoru 21 Ko te rua o pūira. haere tahi te takahi taua e congenital malformations o te ngakau , me te pūnaha circulatory, me te āhuatanga i roto i te ahua o te tangata, me te retardation hinengaro.

Syndrome Patau - tātoru i runga i 13 rua. Tahi e te taua whanaketanga pakaru wheua hape, huringa i roto i te āhua o te angaanga, polydactyl i runga i nga waewae ringa (e ono maihao) ranei, i roto i te ofatiraa o te pūnaha Cardiovascular me io.

Turner syndrome - he monosomy 23 (sex) pūira takirua, hua i roto i te kukune manako tetahi ki tetahi anake X pūira. Ēnei iwi whanaketanga puhoi o te pūnaha whakaputa uri, me whakapuaki ngoikore o ngā āhuatanga fakasekisualé tuarua.